Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss
| Autor: | Mahmoud Mohamed Elgari, Abdel Rahim Mahmoud Muddathir, Nadir Ahmed Ibrahim, Ibrahim M Ibrahim, Faris Mergheni Eltoom |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
QH301-705.5 Deep vein 030204 cardiovascular system & hematology Biology Gene mutation prothrombin (g20210a) Gastroenterology General Biochemistry Genetics and Molecular Biology 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Mthfr c677t In patient mthfr (c677t) cardiovascular diseases Biology (General) dvt rpl Pregnancy General Immunology and Microbiology General Neuroscience medicine.disease Thrombosis medicine.anatomical_structure Factor V G1691A 030220 oncology & carcinogenesis Prothrombin G20210A pca-nr General Agricultural and Biological Sciences factor v (g1691a) |
| Zdroj: | Open Life Sciences, Vol 12, Iss 1, Pp 162-166 (2017) |
| ISSN: | 2391-5412 |
| Popis: | Thrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. The aim of this study was to determine the prevalence and associated risks of V Leiden (G1691A), Prothrombin (G20210A), and MTHFR (C677T) mutations in Saudi women with Deep Vein Thrombosis (DVT) and women with recurrent pregnancy loss (RPL). Protein C and protein S activity were measured to determine combined effects, if any. We examined 60 women with a history of DVT and 60 with RPL, extracted DNA from EDTA blood and determined three mutations by using multiplex PCR reactions followed by Strip Assay KIT. Pro C Global assay was used to determine the cutoff value [PCATNR = 0.80]. Protein C/S chromogenic assay was used to estimate protein C and S percentages. Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). In women with RPL the three mutations did not show any significant association, levels of Protein C, protein S and PCAT-NR in patient groups not different from controls (P > 0.05). In conclusion, we recommend expanding on these data to provide larger-scale studies. |
| Databáze: | OpenAIRE |
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